Quality of life of patients with fibrodysplasia ossificans progressiva

Abstract

Introduction: Fibrodysplasia ossificans progressiva (FOP) is a rare disorder characterized by episodes of acute pain and heterotopic ossification of soft tissue, and progressively limited physical function and social participation.

Objective: We aimed to determine the impact of FOP on quality of life, specifying areas or dimensions most affected.

Materials and methods: This was a transverse observational study; patients with FOP were assessed using the Short Form 36. Questionnaire results were obtained using Quality Metric software and analyzed using frequency distribution, percentages and measures of central tendency.

Results: Eight patients, mean age 30.2 years, were included. The physical dimension was the most affected, with an average of 25.5 points. The most representative items were impaired function and physical role. Physical pain was found with an average of 44.5 points. The best scores were reported in the areas of emotional role and mental health, with an average of 79 and 76 respectively.

Conclusions: FOP is a severely disabling disease, generating a significant deterioration in quality of life secondary to progressive deterioration in physical abilities. The findings of this study demonstrate good self-rated health of participants.

Keywords: FOP; Fibrodysplasia ossificans progressiva; Quality of life; SF36.

Fig. 1

Clinical image of the main suspect characteristic in FOP: symphalangism with shortening and varus in toes

Fig. 2

Shortening of thumb or first toes is the first sign in the FOP patient

Fig. 3

The varus and shortening in the same patient is caused by aberrant proximal delta phalange in the first toe

Fig. 4

Characteristic pattern of ossification in FOP, showing progressive fusion of the cervical spine with decreasing range of movement

Fig. 5

Bony bridges between scapula and left humerus, the right bridge developing. Ossification in the lowest right ribs